BBS10 Gene Diagnostic Tools for Bardet-Biedl Syndrome
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Solution Overview
Problem
Current diagnostic and treatment methods for Bardet-Biedl Syndrome (BBS) are limited by the identification of only nine known BBS genes, which explain only 40-50% of mutational loads, leaving a significant portion of cases undiagnosed and untreated, and there is a need for new genes and diagnostic tools to address the genetic heterogeneity and complexity of the disorder.
Innovation Solution
The development of isolated nucleic acids and polypeptides related to the BBS10 gene, including nucleotide sequences, polypeptides, and antibodies, which can be used as probes, primers, or in diagnostic and therapeutic kits to detect mutations and treat BBS-related conditions such as obesity, retinal degeneration, and renal abnormalities.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Measurement precision
If only nine known BBS genes are used for diagnosis, then current diagnostic methods are limited, but this leaves 50-60% of cases undiagnosed due to genetic heterogeneity
Solution Approach 1:
The patent segments the diagnostic approach by identifying and characterizing specific mutations within the BBS10 gene (exons 1-12), allowing targeted detection of disease-causing variants while excluding benign polymorphisms. This segmentation enables precise diagnosis in cases where previous nine-gene panels were insufficient.
Solution Approach 2:
The patent introduces a comprehensive diagnostic tool that acts as an intermediary between patient samples and genetic analysis. This tool includes specific primers and probes designed to detect BBS10 mutations, serving as a mediator that bridges the gap between limited previous knowledge and the need for broader diagnostic coverage.
2Reliability
If nine BBS genes are identified, then 40-50% of mutational loads are explained, but significant portion of cases remain undiagnosed
Solution Approach 1:
The patent performs preliminary characterization of BBS10 gene mutations, identifying specific pathogenic variants before they are commonly encountered in clinical practice. By pre-characterizing mutations in exons 1-12 and distinguishing them from benign polymorphisms, the patent enables reliable diagnosis in cases previously unaccounted for by the nine-gene model.
3Measurement precision
If BBS10 gene mutations are detected, then accurate diagnosis is enabled, but complex genetic heterogeneity complicates the diagnostic process
Solution Approach 1:
The patent applies local quality by designing specific detection methods tailored to particular regions of the BBS10 gene (exons 1-12). Each primer and probe set is optimized for specific mutational hotspots, allowing accurate detection of disease-causing variants while simplifying the overall diagnostic process through targeted rather than comprehensive sequencing.
Data Source
AI summary
The present invention relates to the identification of a gene, designated BBS1O, that is involved in the genetic disease Bardet Biedl Syndrome (BBS), which is characterized by such diverse symptoms as obesity, diabetes, hypertension, mental retardation, renal cancer and other abnormalities, retinopathy and hypogonadism. Methods of use for the gene, for example in diagnosis and therapy of BBS, also are described.